The role of clonal hematopoiesis of indeterminant potential and DNA (cytosine-5)-methyltransferase dysregulation in pulmonary arterial hypertension and other …
DNA methylation is an epigenetic mechanism that regulates gene expression without
altering gene sequences in health and disease. DNA methyltransferases (DNMTs) are …
altering gene sequences in health and disease. DNA methyltransferases (DNMTs) are …
The impact of epigenetic modifications on allogeneic hematopoietic stem cell transplantation
YP Ktena, M Dionysiou, LP Gondek… - Frontiers in …, 2023 - frontiersin.org
The field of epigenetics studies the complex processes that regulate gene expression
without altering the DNA sequence itself. It is well established that epigenetic modifications …
without altering the DNA sequence itself. It is well established that epigenetic modifications …
[HTML][HTML] Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities
Y Zheng, C Zhao, Q Song, L Xu, B Zhang, G Hu… - Cell Reports, 2023 - cell.com
Appropriate histone modifications emerge as essential cell fate regulators of neuronal
identities across neocortical areas and layers. Here we showed that NSD1, the …
identities across neocortical areas and layers. Here we showed that NSD1, the …
Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges
D Prawitt, T Eggermann - Frontiers in Genetics, 2024 - frontiersin.org
Overgrowth disorders comprise a group of entities with a variable phenotypic spectrum
ranging from tall stature to isolated or lateralized overgrowth of body parts and or organs …
ranging from tall stature to isolated or lateralized overgrowth of body parts and or organs …
Skeletal abnormalities in mice with Dnmt3a missense mutations
A Bell-Hensley, DC Beard, K Feeney, H Zheng, Y Jiang… - Bone, 2024 - Elsevier
Overgrowth and intellectual disability disorders in humans are typified by length/height
and/or head circumference≥ 2 standard deviations above the mean as well as intellectual …
and/or head circumference≥ 2 standard deviations above the mean as well as intellectual …
An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy
AA AlSabah, M Alsalmi, R Massie… - American Journal of …, 2024 - Wiley Online Library
Abstract Tatton–Brown–Rahman syndrome (TBRS) is a rare autosomal dominant
overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA …
overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA …
A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome
GH Kim, J Kim, J Lee, DH Jang - Frontiers in Pediatrics, 2023 - frontiersin.org
Pathogenic variants of DNMT3A have been implicated in Tatton-Brown-Rahman syndrome,
an overgrowth disorder with macrocephaly and intellectual disability. However, there are …
an overgrowth disorder with macrocephaly and intellectual disability. However, there are …
Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment
K Grens, KM Church, E Diehl… - … Advances in Rare …, 2024 - journals.sagepub.com
Overgrowth–intellectual disability (OGID) syndromes are a collection of rare genetic
disorders with overlapping clinical profiles. In addition to the cardinal features of general …
disorders with overlapping clinical profiles. In addition to the cardinal features of general …
DNA メチル化修飾制御とDOHaD
河野大輔 - DOHaD 研究, 2023 - jstage.jst.go.jp
抄録 DNA メチル化修飾は, 胎児期に活発に作られ, その後, 作られたメチル化修飾パターンが安定
して保持され遺伝子発現に影響するなどの性質から, Developmental Origins of Health and …
して保持され遺伝子発現に影響するなどの性質から, Developmental Origins of Health and …